Acute Mast Cell Leukemia Associated with t(4;5)(q21;q33)

To the best of our knowledge, this manuscript describes clinical, and pathologic findings of the first case of acute mast cell leukemia harboring t(4;5)(q21;q33), compatible with fusion of PDGFRB gene to a rare partner, PRKG2 . Translocation involving PDGFRB gene is confirmed by FISH study. This cas...

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Bibliographic Details
Published in:Human pathology 2017-09, Vol.67, p.198-204
Main Authors: Wang, Ren Ching, MD, Ward, David, MD, Dunn, Philip, MD, Chang, Chung-Che, PhD
Format: Article
Language:English
Subjects:
Abdomen
Acute Disease
Antineoplastic Agents - therapeutic use
Basophilia
Biomarkers, Tumor - genetics
Biopsy
Blood
Blood platelets
Bone marrow
Chemotherapy
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 5
Classification
Cyclic GMP-Dependent Protein Kinase Type II - genetics
Cytoplasm
Flow cytometry
Gene Fusion
Genetic Predisposition to Disease
Growth factors
Humans
Imatinib Mesylate - therapeutic use
Immunohistochemistry
Leukemia
Leukemia, Mast-Cell - drug therapy
Leukemia, Mast-Cell - enzymology
Leukemia, Mast-Cell - genetics
Leukemia, Mast-Cell - pathology
Male
Mast cell leukemia
Medical prognosis
Middle Aged
Molecular Diagnostic Techniques
Molecular Targeted Therapy
Mutation
Pathology
Phenotype
PRKG2/PDGFRB fusion gene
Protein Kinase Inhibitors - therapeutic use
Receptor, Platelet-Derived Growth Factor beta - genetics
Remission Induction
Skin
Systemic mastocytosis
Time Factors
Translocation, Genetic
Treatment Outcome
Tumors
Tyrosine kinase inhibitor
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Description
Summary:To the best of our knowledge, this manuscript describes clinical, and pathologic findings of the first case of acute mast cell leukemia harboring t(4;5)(q21;q33), compatible with fusion of PDGFRB gene to a rare partner, PRKG2 . Translocation involving PDGFRB gene is confirmed by FISH study. This case presented a relatively fulminant clinical course with acute mast cell leukemia and “C” findings (cytopenia, hepatosplenomegaly and weight loss), mast cell sarcoma and severe basophilia. Despite aggressive presentation initially, the patient responded well to TKI treatment and is currently in complete remission, 33 months after diagnosis. This case significantly extends the disease spectrum associated with PRKG2/PDGFRB fusion gene. Recognizing the whole spectrum of diseases associated with this fusion is critical since TKI treatment has been exceedingly effective in these patients.
ISSN:0046-8177
1532-8392
DOI:10.1016/j.humpath.2017.03.014